Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations-Reference-Cited by-同舟云学术

Mutational screening of the RB1 gene in Italian patients with retinoblastoma reveals 11 novel mutations

Published:2006-02-04 Issue:3 Volume:51 Page:209-216
ISSN:1434-5161
Container-title:Journal of Human Genetics
language:en
Short-container-title:J Hum Genet

Author:

Sampieri Katia,Hadjistilianou Theodora,Mari Francesca,Speciale Caterina,Mencarelli Maria Antonietta,Cetta Francesco,Manoukian Siranoush,Peissel Bernard,Giachino Daniela,Pasini Barbara,Acquaviva Antonio,Caporossi Aldo,Frezzotti Renato,Renieri Alessandra,Bruttini Mirella

Publisher

Springer Science and Business Media LLC

Subject

Genetics(clinical),Genetics

Link

http://www.nature.com/articles/jhg200632.pdf

Reference43 articles.

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2. Alonso J, Garcia-Miguel P, Abelairas J, Mendiola M, Sarret E, Vendrell MT, Navajas A, Pestana A (2001) Spectrum of germline RB1 gene mutations in Spanish retinoblastoma patients: phenotypic and molecular epidemiological implications. Hum Mutat 17:412–222

3. Alonso J, Frayle H, Menendez I, Lopez A, Garcia-Miguel P, Abelairas J, Sarret E, Vendrell MT, Navajas A, Artigas M, Indiano JM, Carbone A, Torrenteras C, Palacios I, Pestana A (2005) Identification of 26 new constitutional RB1 gene mutations in Spanish, Colombian, and Cuban retinoblastoma patients. Hum Mutat 25:99

4. Blanquet V, Turleau C, Gross-Morand MS, Senamaud-Beaufort C, Doz F, Besmond C (1995) Spectrum of germline mutations in the RB1 gene: a study of 232 patients with hereditary and non hereditary retinoblastoma. Hum Mol Genet 4:383–388

5. Bremner R, Du DC, Connolly-Wilson MJ, Bridge P, Ahmad KF, Mostachfi H, Rushlow D, Dunn JM, Gallie BL (1997) Deletion of RB exons 24 and 25 causes low-penetrance retinoblastoma. Am J Hum Genet 61:556–570

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